Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pulmonary interstitial glycogenosis is an interstitial lung disease of childhood that has been increasingly reported over the past decade. Here, we present a case of pulmonary interstitial glycogenosis associated with trisomy 21, pulmonary arterial hypertension, and congenital heart disease in a 34 week premature infant.
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PMID:Pulmonary interstitial glycogenosis in a patient with trisomy 21. 2719 36

Primary or isolated pulmonary interstitial glycogenosis (PIG) is a rare disease presenting as tachypnea and hypoxemia during the perinatal period. A diffuse interstitial infiltrate with focal hyperinflation is visible on chest imaging. The biopsy findings include diffuse expansion of the interstitium by spindle-shaped cells with pale cytoplasm that, on electron microscopy (EM), are poorly differentiated mesenchymal cells containing abundant monoparticulate glycogen. This glycogenosis appears to be a transient abnormality, usually with a favorable prognosis. Recently, cases of PIG, some associated with other pulmonary or systemic abnormalities, have been described. The clinical significance and potential role of PIG changes remain unknown. We report 28 cases of PIG associated with a spectrum of pediatric pulmonary and cardiovascular disorders, including arterial hypertensive changes with and without abnormal alveolar development (n=9), congenital heart disease (CHD; n=4), hyperplasia of pulmonary neuroendocrine cells resembling neuroendocrine hyperplasia of infancy (NEHI, n=5), congenital pulmonary airway malformation (n=5), congenital lobar emphysema (n=4), and Noonan syndrome (n=1). In all cases, PIG was confirmed by positive periodic acid-Schiff (PAS) staining, immunopositivity for vimentin, and EM. Although some patients improved with age, 7 died of respiratory failure or complications of CHD, suggesting that PIG may be clinically significant when associated with other severe disorders. The association of PIG with a spectrum of mostly congenital lung disorders supports its origin as a developmental abnormality of interstitial fibroblast differentiation rather than a nonspecific reactive process.
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PMID:Pulmonary interstitial glycogenosis associated with a spectrum of neonatal pulmonary disorders. 2887 55

As recent studies on the Third Reich have shown, a two-digit number of Jewish pathologists fell victim to National Socialist repression. One of them was Edgar von Gierke. His name is nowadays best known in medicine for discovering the "von Gierke disease" - also classified as "Glycogen storage disease type I" - which he first described in 1929. This article deals with the role of von Gierke as a persecuted and disenfranchised Jew. Accordingly, the focus is on von Gierke's repressive experiences in the Third Reich, which were quite different from other cases. It is based on (1) previously partly unnoticed archival sources and (2) a re-analysis of the relevant research literature. The paper shows that Edgar von Gierke was a double victim of Nazi Germany, even though he was able to maintain his professional position for a comparatively long time: In contrast to other Jews who were dismissed in 1933 on the basis of the "Aryan paragraph", von Gierke benefited from a legal exception as a decorated front fighter in the First World War. It was not until 1937 that he was released from public service. Even more striking is the fact that von Gierke was ordered back to his old position twice between 1939 and 1944 due to a lack of personnel. The evaluation of archival files leads to the conclusion that von Gierke was recalled to work under pressure from leading National Socialists and that this ordered reappointment had a devastating effect on his health status. At that time the pathologist was already suffering from a progressive heart disease, to which he succumbed in autumn 1945 - fatally only a few month after the fall of the Third Reich.
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PMID:Edgar von Gierke (1877-1945) - Eponym of "von Gierke disease" and double victim of National Socialism. 3170 51


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